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Table 1 Results of karyotype, MLPA (according to ISCN, 2013) and age at diagnosis

From: Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome

Cases Results % cells with i12p Tissue Age at diagnosis
1 47,XX,+i(12)(p10)/46,XX 82 Skin 3mo 24 d
2 47,XX,+i(12)(p10)/46,XX 50 Skin 10mo
3 47,XX,+i(12)(p10)/46,XX 80 Skin 1y10mo
4 47,XX,+i(12)(p10) 100 Skin 1y5mo
6 47,XX,+i(12)(p10)/46,XX 75 Amniotic fluid Prenatal
47,XX,+i(12)(p10) 100 Skin 2y 4 mo
MLPA rsa 12p13.3(RBBP2)X4 and rsa 12p13.3(SLC6A12)X4 NA Buccal smear 2y 4 mo
MLPA rsa 12p13.3(RBBP2)X4 and rsa 12p13.3(SLC6A12)X4 NA Skin 2y 4 mo
7 47,XY,+i(12)(p10)/46, XY 87 Skin 7 mo
8 47,XY,+i(12)(p10) 100 Skin 3 y
9 47,XY,+i(12)(p10) 100 Amniotic fluid Prenatal
10 MLPA rsa 12p13.3(RBBP2)X4 and rsa 12p13.3(SLC6A12)X4 NA Buccal Smear 1 y 10 mo
  1. NA - not applicable.